EMILIN3
Elastin Microfibril Interfacer 3
Gene Information Card
| Symbol | EMILIN3 |
|---|---|
| Full Name | elastin microfibril interfacer 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 90187 ncbi.nlm.nih.gov/gene/90187 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y6C2 |
| OMIM ID | 608947 |
| HGNC ID | 18089 |
| Aliases | EMILIN-3, EMILIN4, MGC29643 |
Description
EMILIN3 (elastin microfibril interfacer 3) encodes a member of the EMILIN family of extracellular matrix glycoproteins. The protein contains an EMI domain, a collagen-like domain, and a C-terminal globular domain, and is involved in the assembly and organization of elastic fibers and microfibrils. EMILIN3 is expressed in various tissues, particularly those rich in elastic fibers such as blood vessels, lung, and skin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Skin | 8.3 | Low |
| Heart | 6.1 | Low |
| Artery | 5.4 | Low |
| Adipose | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 15.2 | Lung carcinoma cell line |
| HUVEC | 10.8 | Endothelial cells |
| HeLa | 3.5 | Cervical carcinoma |
| K562 | 1.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • cell adhesion |
| • protein binding | • extracellular region |
| • collagen binding |
Pathways
• Elastic fibre formation
• Extracellular matrix organization
Protein Summary
EMILIN3 is a 787-amino acid extracellular matrix glycoprotein that localizes to elastic fibers and microfibrils. It contains an N-terminal EMI domain, a central collagen-like region, and a C-terminal C1q domain. The protein is thought to mediate cell-matrix interactions and contribute to the structural integrity of elastic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMILIN3 Knockout HEK293 Cell Line | EDJ-KQ9857 | Human | 90187 | Details Get a Quote |
| EMILIN3 Knockout HeLa Cell Line | EDJ-KQ57762 | Human | 90187 | Details Get a Quote |
| EMILIN3 Knockout A-549 Cell Line | EDJ-KQ66257 | Human | 90187 | Details Get a Quote |
| EMILIN3 Knockout HCT 116 Cell Line | EDJ-KQ74677 | Human | 90187 | Details Get a Quote |
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